无创产前筛查在高龄妊娠染色体非整倍体筛查中的应用  

Application of non⁃invasive prenatal testing for chromosome aneuploidy in advanced pregnancy

作　　者：刘建珍[1] 陈鸿桢 欧阳碧微 许碧秋 覃燕龄 李熹翀 孟祥荣 林铿[1] LIU Jianzhen;CHEN Hongzhen;OUYANG Biwei;XU Biqiu;QIN Yanling;LI Xichong;MENG Xian-grong;LIN Keng(Department of Clinical Laboratory,Huadu Maternity and Child Healthcare Hospital,Guangzhou,Guang-dong,China,510800)

机构地区：[1]广州市花都区妇幼保健院检验科,广东广州510800

出　　处：《分子诊断与治疗杂志》2024年第5期852-855,共4页Journal of Molecular Diagnostics and Therapy

基　　金：广州市花都区卫生健康局一般科研专项项目(22⁃HDWS⁃099);广州市花都区妇幼保健院(胡忠医院)院内科研项目(2023B01)。

摘　　要：目的评价无创产前筛查(NIPT)在高龄妊娠染色体非整倍体筛查中的应用价值。方法选取2018年2月至2022年5月在广州市花都区幼保健院接受NIPT检测的3263例高龄妊娠孕妇纳入为高龄妊娠组,并以同期在本院接受NIPT检测的7732例低龄妊娠孕妇纳入为低龄妊娠组,分析NIPT结果和染色体核型结果,比较两组的检测效能。结果高龄妊娠组检出NIPT高风险17例(0.52%),T21、T18、T13及SCA的高风险检出率分别为0.12%、0.06%、0.12%和0.21%;低龄妊娠组检出NIPT高风险44例(0.52%),T21、T18、T13及SCA的高风险检出率分别为0.13%、0.06%、0.04%和0.28%,两组NIPT高风险检出率比较,差异无统计学意义(χ^(2)=0.0006,P>0.05)。高龄妊娠组T21、T18、T13及SCA的阳性预测值(PPV)分别100%、50%、25%和83.33%,复合PPV为68.75%(11/16);低龄妊娠组T21、T18、T13及SCA的PPV分别90%、40%、0%和31.82%,复合PPV为50%(18/36),两组的复合PPV比较,差异无统计学意义(χ^(2)=0.0298,P>0.05)。结论NIPT在高龄妊娠染色体非整倍体的筛查效能与低龄妊娠组相近,能准确检测T21,对T18和T13的检测效率有待提高,对SCA也起着有效的筛查作用。Objective To evaluate the value of non⁃invasive prenatal testing(NIPT)in the screen⁃ing of chromosomal aneuploidy in advanced pregnancy.Methods 3263 elderly pregnancy patients who re⁃ceived the NIPT test at Huadu District Children's Health Care Hospital in Guangzhou City from February 2018 to May 2022 were selected as the elderly pregnancy group,and 7.732 young pregnancy patients who also re⁃ceived the NIPT test at our hospital during the same period to be included in the younger pregnancy group.The NIPT results and chromosome karyotype results,were analyzed and the detection efficiency of the two groups was compared.Results The high⁃risk rate of NIPT was found in 17 cases(0.52%),with high risk detection rates of T21,T18,T13 and SCA at 0.12%,0.06%,0.12%and 0.21%,respectively.There were 44 cases with a high risk of NIPT detected in the young pregnancy group(0.52%),and the high⁃risk detection rates for T21,T18,T13 and SCA were 0.13%,0.06%,0.04%and 0.28%,respectively.There was no significant dif⁃ference in the high⁃risk detection rates of NIPT between the two groups(χ^(2)=0.0006,P>0.05).The positive predictive values(PPV)for T21,T18,T13 and SCA were 100%,50%,25%and 83.33%,respectively,with a composite PPV of 68.75%(11/16).The PPV for T21,T18,T13 and SCA in the young pregnancy group was 90%,40%,0%and 31.82%,respectively,and the composite PPV was 50%(18/36).There was no significant difference in the composite PPV between the two groups(χ^(2)=0.0298,P>0.05).Conclusion The screening efficiency of NIPT for chromosomal aneuploidies in advanced pregnancy is similar.It can accu⁃rately detect T 21,and the detection efficiency of T 18 and T 13 needs to be improved,NIPT also plays an ef⁃fective screening role in SCA.

关 键 词：无创产前筛查 高龄妊娠 染色体非整倍体 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]